ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829091387
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000170726
RCV000621881
RCV000766395
RCV000793279
RCV002485061
ClinVar Variation:
190592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373083.1:p.Arg350Leu
CA301011
NM_001386154.1:c.1049G>T